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Step 1 Immunology > Immunodeficiencies > Flashcards

Immunodeficiencies Flashcards

1
Q

X-linked (Bruton) Agammaglobulinemia: defect?

A

B cell disorder.

X-linked defect in BTK that prevents B-cell maturation

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2
Q

B cell disorder.

X-linked defect in BTK that prevents B-cell maturation

A

X-linked (Bruton) Agammaglobulinemia: defect?

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3
Q

X-linked (Bruton) Agammaglobulinemia: presentation?

A

B cell disorder.

Recurrent bacterial and enteroviral infections after 6 months, when maternal IgG dissipates

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4
Q

B cell disorder.

Recurrent bacterial and enteroviral infections after 6 months, when maternal IgG dissipates

A

X-linked (Bruton) Agammaglobulinemia: presentation?

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5
Q

X-linked (Bruton) Agammaglobulinemia: findings?

A

1) No B cells in peripheral blood
2) Low Ig of all classes
3) Atrophic/absent lymph nodes and tonsils

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6
Q

1) No B cells in peripheral blood
2) Low Ig of all classes
3) Atrophic/absent lymph nodes and tonsils

A

X-linked (Bruton) Agammaglobulinemia: findings?

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7
Q

Selective IgA deficiency: defect?

A

B cell disorder.

Unknown cause, most common primary immunodeficiency

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8
Q

B cell disorder.

Unknown cause, most common primary immunodeficiency

A

Selective IgA deficiency: defect?

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9
Q

Selective IgA deficiency: presentation?

A

1) Majority asymptomatic
2) Anaphylaxis to IgA blood products
3) Airway and GI infections
4) Autoimmune disorders
5) Atopy

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10
Q

1) Majority asymptomatic
2) Anaphylaxis to IgA blood products
3) Airway and GI infections
4) Autoimmune disorders
5) Atopy

A

Selective IgA deficiency: presentation?

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11
Q

Selective IgA deficiency: findings?

A

Decreased IgA with normal IgG and IgM

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12
Q

Decreased IgA with normal IgG and IgM

A

Selective IgA deficiency: findings?

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13
Q

Common variable immunodeficiency: defect?

A

B cell disorder

Defect in B-cell differentiation with many causes.

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14
Q

B cell disorder

Defect in B-cell differentiation with many causes.

A

Common variable immunodeficiency: defect?

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15
Q

Common variable immunodeficiency: presentation?

A

1) Can be acquired in 20’s and 30’s
2) Increased risk of autoimmune disease
3) Increased risk of sinopulmonary infx and bronchectasis
4) Lymphoma

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16
Q

1) Can be acquired in 20’s and 30’s
2) Increased risk of autoimmune disease
3) Increased risk of sinopulmonary infx and bronchectasis
4) Lymphoma

A

Common variable immunodeficiency: presentation?

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17
Q

DiGeorge Syndrome: defect?

A

T-cell disorder

1) 22q11 deletion
2) Failure of 3rd and 4th pharyngeal pouch development
3) Absent thymus and parathryoids

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18
Q

T-cell disorder

1) 22q11 deletion
2) Failure of 3rd and 4th pharyngeal pouch development
3) Absent thymus and parathryoids

A

DiGeorge Syndrome: defect?

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19
Q

DiGeorge Syndrome: presentation?

A

1) Recurrent viral and fungal infections
2) Cyanotic heart defects
3) Hypocalcemia -> tetany

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20
Q

1) Recurrent viral and fungal infections
2) Cyanotic heart defects
3) Hypocalcemia -> tetany

A

DiGeorge Syndrome: presentation?

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21
Q

DiGeorge Syndrome: findings?

A

1) Low T-cells, PTH and calcium
2) Absent thymic shadow on CXR
3) 22q11 deletion on FISH

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22
Q

1) Low T-cells, PTH and calcium
2) Absent thymic shadow on CXR
3) 22q11 deletion on FISH

A

DiGeorge Syndrome: findings?

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23
Q

IL-12 receptor deficiency: defect?

A

Autosomal recessive Th1 deficiency

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24
Q

Autosomal recessive Th1 deficiency

A

IL-12 receptor deficiency: defect?

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25
IL-12 receptor deficiency: presentation?
1) Disseminated mycobacterial and fungal infx | 2) May present after BCG vaccination
26
1) Disseminated mycobacterial and fungal infx | 2) May present after BCG vaccination
IL-12 receptor deficiency: presentation?
27
IL-12 receptor deficiency: findings?
Decreased IFN-γ
28
Autosomal dominant Hyper-IgE Syndrome: defect?
1) STAT3 mutation 2) Deficient Th17 differentiation 3) Impaired recruitment of PMNs to infected site
29
1) STAT3 mutation 2) Deficient Th17 differentiation 3) Impaired recruitment of PMNs to infected site
Autosomal dominant Hyper-IgE Syndrome: defect?
30
Autosomal dominant Hyper-IgE Syndrome: presentation?
1) coarse Facies 2) cold staph Abscesses 3) retention of baby Teeth 4) Increased IgE 5) Dermatologic problems (eczema) "Job was FATED"
31
1) coarse Facies 2) cold staph Abscesses 3) retention of baby Teeth 4) Increased IgE 5) Dermatologic problems (eczema)
Autosomal dominant Hyper-IgE Syndrome: presentation?
32
Autosomal dominant Hyper-IgE Syndrome: findings?
1) Increased IgE | 2) Decreased IFN-γ
33
1) Increased IgE | 2) Decreased IFN-γ
Autosomal dominant Hyper-IgE Syndrome: findings?
34
Chronic mucocutaneous candidiasis: defect?
T-cell disfunction with many causes
35
Chronic mucocutaneous candidiasis: presentation?
Non-invasive Candida infx of skin and mucous membranes
36
Chronic mucocutaneous candidiasis: Findings?
1) T-cells do not proliferate in response to Candida antigens 2) No cutaneous reaction to Candida antigens
37
1) T-cells do not proliferate in response to Candida antigens 2) No cutaneous reaction to Candida antigens
Chronic mucocutaneous candidiasis: Findings?
38
Severe combined immunodeficiency (SCID): 2 most common defects?
B and T cell disorder 1) X-linked: defective IL-2R gamma chain -> no functioning IL receptors on T, B and NK cells 2) Autosomal recessive: adenosine deaminase deficiency-> downstream dNTP synthesis inhibition-> inhibited lymphocyte proliferation
39
B and T cell disorder 1) X-linked: defective IL-2R gamma chain -> no functioning IL receptors on T, B and NK cells 2) Autosomal recessive: adenosine deaminase deficiency-> downstream dNTP synthesis inhibition-> inhibited lymphocyte proliferation
Severe combined immunodeficiency (SCID): 2 most common defects?
40
Severe combined immunodeficiency (SCID): presentation?
1) Recurrent viral, bacterial, fungal, and protozoal infx 2) Failure to thrive 3) Chronic diarrhea and thrush
41
1) Recurrent viral, bacterial, fungal, and protozoal infx 2) Failure to thrive 3) Chronic diarrhea and thrush
Severe combined immunodeficiency (SCID): presentation?
42
SCID Treatment
Bone marrow transplant (no concern for rejection)
43
SCID findings?
1) Decreased T cell Receptor Excision Circles (TRECs) 2) Absence of thymic shadow on CXR 3) Absence on LN germinal centers on biopsy 4) Absence of T cells on flow cytometry
44
1) Decreased T cell Receptor Excision Circles (TRECs) 2) Absence of thymic shadow on CXR 3) Absence on LN germinal centers on biopsy 4) Absence of T cells on flow cytometry
SCID findings?
45
Ataxia-telangiectasia: defect?
B cell and T cell defect 1) Defect in ATM gene 2) no dsDNA break repair 3) Arrest of cell cycle
46
B cell and T cell defect 1) Defect in ATM gene 2) no dsDNA break repair 3) Arrest of cell cycle
Ataxia-telangiectasia: defect?
47
Ataxia-telangiectasia: presentation?
Triad (A's): 1) Ataxia (cerebellar defects) 2) spider Angiomas 3) IgA deficiency
48
1) Ataxia (cerebellar defects) 2) spider Angiomas 3) IgA deficiency
Ataxia-telangiectasia: presentation?
49
Ataxia-telangiectasia: findings?
1) Increased Alpha Fetal Protein (AFP) 2) Decreased IgA, IgG, IgE 3) Lymphopenia 4) Cerebella atrophy
50
1) Increased Alpha Fetal Protein (AFP) 2) Decreased IgA, IgG, IgE 3) Lymphopenia 4) Cerebella atrophy
Ataxia-telangiectasia: findings?
51
Hyper-IgM syndrome: defect?
X-linked recessive: defective Th cell CD40L-> B cell class switching defect
52
X-linked recessive: defective Th cell CD40L-> B cell class switching defect
Hyper-IgM syndrome: defect?
53
Hyper-IgM syndrome: presentation?
1) Severe pyogenic infections early in life | 2) Opportunistic Pneumocystis, Cryptosporidium and CMV infx
54
1) Severe pyogenic infections early in life | 2) Opportunistic Pneumocystis, Cryptosporidium and CMV infx
Hyper-IgM syndrome: presentation?
55
Hyper-IgM syndrome: Findings?
1) Normal or elevated IgM | 2) Extremely low IgG, IgA, IgE
56
1) Normal or elevated IgM | 2) Extremely low IgG, IgA, IgE
Hyper-IgM syndrome: Findings?
57
Wiskott-Aldritch syndrome: defect?
T cell and B cell disorder X-linked recessive: WAS gene mutation-> T cells unable to reorganize actin cytoskeleton
58
X-linked recessive: WAS gene mutation-> T cells unable to reorganize actin cytoskeleton
Wiskott-Aldritch syndrome: defect?
59
Wiskott-Aldritch syndrome: presentation?
"WATER" 1) Wiskott Aldritch 2) Thrombocytopenia 3) Eczema 4) Recurrent infections 5) Increased risk of autoimmunity and malignancy
60
1) Thrombocytopenia 2) Eczema 3) Recurrent infections 4) Increased risk of autoimmunity and malignancy
Wiskott-Aldritch syndrome: presentation?
61
Wiskott-Aldritch syndrome: findings?
1) Low to normal IgG, IgM 2) Elevated IgE, IgA 3) Fewer and smaller platelets
62
1) Low to normal IgG, IgM 2) Elevated IgE, IgA 3) Fewer and smaller platelets
Wiskott-Aldritch syndrome: findings?
63
Leukocyte adhesion deficiency T1: defect?
Autosomal recessive: Defect in CD18 integrin on phagocytes, causing impaired migration and chemotaxis
64
Autosomal recessive: Defect in CD18 integrin on phagocytes, causing impaired migration and chemotaxis
Leukocyte adhesion deficiency T1: defect?
65
Leukocyte adhesion deficiency T1: presentation?
1) Delayed separation of umbilical cord (>30 days) 2) Recurrent bacterial skin and mucosal infections 3) Absent pus formation 4) Impaired wound healing
66
1) Delayed separation of umbilical cord (>30 days) 2) Recurrent bacterial skin and mucosal infections 3) Absent pus formation 4) Impaired wound healing
Leukocyte adhesion deficiency T1: presentation?
67
Leukocyte adhesion deficiency T1: findings?
1) Increased PMN count | 2) No PMNs at infx site
68
1) Increased PMN count | 2) No PMNs at infx site
Leukocyte adhesion deficiency T1: findings?
69
Chediak-Higashi syndrome: defect
Autosomal recessive: defect in LYST lysosomal trafficking regulator, causing decreased phagosome-lysosome fusion
70
Autosomal recessive: defect in LYST lysosomal trafficking regulator, causing decreased phagosome-lysosome fusion
Chediak-Higashi syndrome: defect
71
Chediak-Higashi syndrome: presentation
1) Partial albinism 2) Recurrent pyogenic staph and strep infx 3) Infiltrative lymphohystiocytosis 4) Peripheral neuropathy and progressive neurodegeneration
72
1) Partial albinism 2) Recurrent pyogenic staph and strep infx 3) Infiltrative lymphohystiocytosis 4) Peripheral neuropathy and progressive neurodegeneration
Chediak-Higashi syndrome: presentation
73
Chediak-Higashi syndrome: findings
1) Giant granules in granulocytes and PLTs 2) Pancytopenia 3) Mild coagulation defects
74
1) Giant granules in granulocytes and PLTs 2) Pancytopenia 3) Mild coagulation defects
Chediak-Higashi syndrome: findings
75
Chronic granulomatous disease: defect
X-linked recessive: NADPH oxidase defect -> impaired PMN respiratory burst
76
X-linked recessive: NADPH oxidase defect -> impaired PMN respiratory burst
Chronic granulomatous disease: defect
77
Chronic granulomatous disease: presentation
Recurrent catalase + infections: 1) Nocardia 2) Pseudomonas 3) Listeria 4) Aspergillus 5) Candida 6) E. Coli 7) Staph 8) Serratia 9) B cepacia 10) H pylori "Cats Need PLACESS to Belch Hairballs"
78
Recurrent catalase + infections
Chronic granulomatous disease: presentation
79
Chronic granulomatous disease: findings
1) Decreased green flourescence dihydrorhodamine (flow cytometry) test 2) Nitroblue dye reduction test (obsolete)
80
1) Decreased green flourescence dihydrorhodamine (flow cytometry) test 2) Nitroblue dye reduction test (obsolete)
Chronic granulomatous disease: findings
81
General susceptibility in T cell deficiency
Fungal (esp. local Candidiasis and PCP) Viral (esp. CMV, EBV, JCV, VZV, chronic respiratory/GI infx) Sepsis
82
General susceptibility in B cell deficiency
Encapsulated bacteria: 1) Pseudomonas 2) Strep pneumo 3) H. Influenzae type B 4) Neisseria meningitides 5) E. Coli 6) Salmonella 7) Klebsiella 8) Strep (group B) "Please SHINE my SKiS" GI giardiasis (no IgA)
83
General susceptibility in granulocyte deficiency
Fungal (Systemic Candidiasis, Aspergillus) | Bacterial
84
General susceptibility in complement deficiency
Early component deficiencies: encapsulated bacteria | MAC deficiencies: Neisseria

Step 1 Immunology (13 decks)

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